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FLASH GENE
Symbol CYP7A1 contributors: mct - updated : 24-02-2015
HGNC name cytochrome P450, family 7, subfamily A, polypeptide 1
HGNC id 2651
Corresponding disease
CYP7A1 cholesterol 7alpha-hydroxylase (CYP7A1) deficiency
Location 8q12.1      Physical location : 59.402.737 - 59.412.720
Synonym name
  • cytochrome P450 7A1
  • cholesterol 7-alpha-hydroxylase
  • cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1
  • Synonym symbol(s) CP7A, CYP7, MGC138389, MGC126826, CYPVII
    EC.number 1.14.13.17
    DNA
    TYPE functioning gene
    STRUCTURE 9.98 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   HRE
    text structure
  • a promoter containing an insertion with a cyclophilin A processed pseudogene
  • promoter with bile acid response element (BARE) and thyroid response element
  • MAPPING cloned Y linked N status provisional
    Physical map
    FLJ32370 8q11.23 hypothetical protein FLJ32370 NCOA6IP 8p11 nuclear receptor coactivator 6 interacting protein LYN 8q13 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog PSMC6P 8q11.23 proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene RPS20 8 ribosomal protein S20 MOS 8q11 v-mos Moloney murine sarcoma viral oncogene homolog PLAG1 8q12 pleiomorphic adenoma gene 1 MGC2217 RDH-E2 8q12.1 retinal short chain dehydrogenase reductase PENK 8q11.23-q12 proenkephalin LOC389662 8 similar to septin 10 isoform 1 LOC346950 8q11.23 similar to ribosomal protein L37 FLJ20421 8q11.23 hypothetical protein FLJ20421 DKFZP434F122 8q12.1 DKFZP434F122 protein LOC389663 8 similar to hypothetical protein MGC39325 8q12.1 hypothetical protein MGC39325 LOC137886 8q12.1 hypothetical protein LOC137886 CYP7A1 8q11-q12 cytochrome P450, family 7, subfamily A, polypeptide 1 LOC137885 8q12.1 similar to peptidylprolyl isomerase A SDCBP 8q12 syndecan binding protein (syntenin) NSMAF 8q12-q13 neutral sphingomyelinase (N-SMase) activation associated factor TOX 8q11.23 neutral sphingomyelinase (N-SMase) activation associated factor CA8 8q11-q12 carbonic anhydrase VIII LOC392225 8 similar to IAP-associated factor VIAF1; phosducin-like 2 RAB2 8q12.1 RAB2, member RAS oncogene family KIAA1416 8q12.1 KIAA1416 protein LOC282694 LOC157813 8q12.2 hypothetical LOC157813 NPM1P6 8q12.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 MGC34646 8q12.2 hypothetical protein MGC34646 ASPH 8q12.1 aspartate beta-hydroxylase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2875 - 504 - 2005 15752749
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal hydrophobic region
  • an O2 binding domain
  • a steroidogenic domain
  • an heme-binding domain
  • conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Cyp7a1
    Homologene
    FAMILY
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • cholesterol 7 alpha-hydroxylase (monooxygenase)
  • catalyzing the first and rate-limiting step in the coonversion of cholesterol to bile acids
  • plays a critical role in regulation of bile acid synthesis in the liver
  • is the initial and rate-limiting enzyme for bile acid synthesis
  • enhances cholesterol to bile acid conversion and plays a crucial role in regulation of serum cholesterol levels.
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide, other,
  • NADPH
  • heme
  • putative role of micro RNA in regulation of cholesterol 7alpha-hydroxylase expression in human hepatocytes
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • NR5A2 is a key transcriptional factor required for the hepatic expression of CYP7A1
  • PPARGC1A is necessary for fasting-mediated induction of CYP7A1
  • NR5A2 controls CYP7A1 expression from two distinct sites, i.e., liver and ileum, in the enterohepatic circulation
  • FGF7 inhibited CYP7A1 gene expression in hepatocytes and suppression of CYP7A1 expression by FGF7 was mediated by FGFR2 and its downstream JNK signaling cascade
  • thyroid hormone regulated step involves induction of CYP7A1, which enhances cholesterol to bile acid conversion and plays a crucial role in regulation of serum cholesterol levels
  • NR2F2 variant 2 negatively regulates the function of NR2F2 by inhibiting its binding to DNA to decrease CYP7A1 expression
  • PROX1 interacts with KDM1A to recruit the repressive KDM1A/NuRD complex to CYP7A1 promoter and co-represses transcription through epigenetic mechanisms
  • activation of the VDR represses hepatic NR0B2 to increase levels on CYP7A1 and reduce cholesterol
  • cell & other
    REGULATION
    activated by the heterodimer formed by NR5A2 (CRH1) and NR1H3 (LXR)
    induced by glucose signaling also inducing CYP7A1 gene transcription by epigenetic regulation of the histone acetylation status
    inhibited by the heterodimer formed by NR5A2 (LRH1) and SHP (NR0B2)
    FGF7 that may play a significant role in maintaining bile acid homeostasis, protect hepatocytes from excessive bile acid toxicity and promote the liver regeneration during liver injury and fibrosis
    repressed by the tNF-4 site in the BARE
    Other regulated by phosphorylation/dephosphorylation
    insulin is involved in the regulation of diurnal variation of CYP7A1 activity
    ASSOCIATED DISORDERS
    corresponding disease(s) CYP7A1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS